If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| 27 | 18 | 34 | 1 | 0 | 79 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| CFTR | 18 | 14 | 27 | 1 | 59 |
| ADGRG2 | 9 | 0 | 0 | 0 | 9 |
| CFTR, LOC111674475 | 0 | 0 | 5 | 0 | 5 |
| CFTR, LOC111674472 | 0 | 3 | 0 | 0 | 3 |
| CFTR, LOC113664106 | 0 | 1 | 1 | 0 | 2 |
| CFTR, LOC111674477 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 2 | 5 | 23 | 1 | 31 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 6 | 8 | 0 | 0 | 14 |
| Biology Pathology Center, Lille University Hospital | 9 | 0 | 0 | 0 | 9 |
| MGZ Medical Genetics Center | 3 | 2 | 3 | 0 | 8 |
| Baylor Genetics | 4 | 0 | 2 | 0 | 6 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 1 | 3 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 1 | 0 | 0 | 2 |
| Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare | 1 | 1 | 0 | 0 | 2 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 0 | 2 | 0 | 2 |
| 3billion, Medical Genetics | 1 | 0 | 1 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 1 |
| Lifecell International Pvt. Ltd | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 0 | 0 | 1 |